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Select item 111231951.

Atypic Retinitis Pigmentosa Clinical Features Associated with a Peculiar CRX Gene Mutation in Italian Patients

Marco Piergentili, Vito Spagnuolo, Vittoria Murro, Dario Pasquale Mucciolo, Dario Giorgio, Ilaria Passerini, Elisabetta Pelo, Fabrizio Giansanti, Gianni Virgili, Andrea Sodi

Medicina (Kaunas) 2024 May; 60(5): 797. Published online 2024 May 11. doi: 10.3390/medicina60050797

PMCID:: PMC11123195

Abstract Article PDF–11M

Select item 85808872.

Allele-specific gene editing to rescue dominant CRX-associated LCA7 phenotypes in a retinal organoid model

Kathleen R. Chirco, Shereen Chew, Anthony T. Moore, Jacque L. Duncan, Deepak A. Lamba

Stem Cell Reports. 2021 Nov 9; 16(11): 2690–2702. Published online 2021 Oct 14. doi: 10.1016/j.stemcr.2021.09.007

PMCID:: PMC8580887

Abstract Article PDF–8.2M

Select item 72932723.

Clinical and Genetic Characteristics of 18 Patients from 13 Japanese Families with CRX-associated retinal disorder: Identification of Genotype-phenotype Association

Yu Fujinami-Yokokawa, Kaoru Fujinami, Kazuki Kuniyoshi, Takaaki Hayashi, Shinji Ueno, Atsushi Mizota, Kei Shinoda, Gavin Arno, Nikolas Pontikos, Lizhu Yang, Xiao Liu, Hiroyuki Sakuramoto, Satoshi Katagiri, Kei Mizobuchi, Taro Kominami, Hiroko Terasaki, Natsuko Nakamura, Shuhei Kameya, Kazutoshi Yoshitake, Yozo Miyake, Toshihide Kurihara, Kazuo Tsubota, Hiroaki Miyata, Takeshi Iwata, Kazushige Tsunoda, Japan Eye Genetics Consortium

Sci Rep. 2020; 10: 9531. Published online 2020 Jun 12. doi: 10.1038/s41598-020-65737-z

PMCID:: PMC7293272

Abstract Article PDF–2.5M

Select item 61335984.

A novel CRX frameshift mutation causing cone-rod dystrophy in a Chinese family: A case report

Lihua Wang, Anhui Qi, Hong Pan, Beihong Liu, Jingjing Feng, Wei Chen, Binbin Wang

Medicine (Baltimore) 2018 Aug; 97(32): e11499. Published online 2018 Aug 10. doi: 10.1097/MD.0000000000011499

PMCID:: PMC6133598

Abstract Article PDF–943K

Select item 58648415.

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

M. T. Ibrahim, T. Alarcon-Martinez, I. Lopez, N. Fajardo, J. Chiang, R. K. Koenekoop

Sci Rep. 2018; 8: 5034. Published online 2018 Mar 22. doi: 10.1038/s41598-018-22704-z

PMCID:: PMC5864841

Abstract Article PDF–3.0M

Select item 48323456.

Using Zinc Finger Nuclease Technology to Generate CRX‐Reporter Human Embryonic Stem Cells as a Tool to Identify and Study the Emergence of Photoreceptors Precursors During Pluripotent Stem Cell Differentiation

Joseph Collin, Carla B Mellough, Birthe Dorgau, Stefan Przyborski, Inmaculada Moreno‐Gimeno, Majlinda Lako

Stem Cells. 2016 Feb; 34(2): 311–321. Published online 2015 Nov 26. doi: 10.1002/stem.2240

PMCID:: PMC4832345

Abstract Article PDF–838K

Select item 13775417.

A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

M M Sohocki, L S Sullivan, H A Mintz-Hittner, D Birch, J R Heckenlively, C L Freund, R R McInnes, S P Daiger

Am J Hum Genet. 1998 Nov; 63(5): 1307–1315. doi: 10.1086/302101

PMCID:: PMC1377541

Summary PDF–1.2M

Select item 67687648.

A case–control collapsing analysis identifies retinal dystrophy genes associated with ophthalmic disease in patients with no pathogenic ABCA4 variants

Charles J. Wolock, Nicholas Stong, Chu Jian Ma, Takayuki Nagasaki, Winston Lee, Stephen H. Tsang, Sitharthan Kamalakaran, David B. Goldstein, Rando Allikmets

Genet Med. Author manuscript; available in PMC 2019 Oct 4.

Published in final edited form as: Genet Med. 2019 Oct; 21(10): 2336–2344. Published online 2019 Mar 30. doi: 10.1038/s41436-019-0495-0

PMCID:: PMC6768764

Abstract Article PDF–585K

Select item 50621579.

Identification of the Photoreceptor Transcriptional Co-Repressor SAMD11 as Novel Cause of Autosomal Recessive Retinitis Pigmentosa

M. Corton, A. Avila-Fernández, L. Campello, M. Sánchez, B. Benavides, M. I. López-Molina, L. Fernández-Sánchez, R. Sánchez-Alcudia, L. R. J. da Silva, N. Reyes, E. Martín-Garrido, O. Zurita, P. Fernández-San José, R. Pérez-Carro, F. García-García, J. Dopazo, B. García-Sandoval, N. Cuenca, C. Ayuso

Sci Rep. 2016; 6: 35370. Published online 2016 Oct 13. doi: 10.1038/srep35370

PMCID:: PMC5062157

Abstract Article PDF–1.6M

Select item 372638410.

Differential CRX and OTX2 expression in human retina and retinoblastoma

Darryl D. Glubrecht, Ji-Hyeon Kim, Laurie Russell, J. Stephen Bamforth, Roseline Godbout

J Neurochem. Author manuscript; available in PMC 2013 Jul 29.

Published in final edited form as: J Neurochem. 2009 Oct; 111(1): 250–263. Published online 2009 Aug 3. doi: 10.1111/j.1471-4159.2009.06322.x

PMCID:: PMC3726384

Abstract Article PDF–2.6M

Select item 275791711.

Mutations in the DNA-Binding Domain of NR2E3 Affect In Vivo Dimerization and Interaction with CRX

Raphael Roduit, Pascal Escher, Daniel F. Schorderet

PLoS One. 2009; 4(10): e7379. Published online 2009 Oct 12. doi: 10.1371/journal.pone.0007379

PMCID:: PMC2757917

Abstract Article PDF–3.2M

Select item 636868012.

NRL and CRX define photoreceptor identity and reveal subgroup-specific dependencies in medulloblastoma

Alexandra Garancher, Charles Y. Lin, Morgane Morabito, Wilfrid Richer, Nathalie Rocques, Magalie Larcher, Laure Bihannic, Kyle Smith, Catherine Miquel, Sophie Leboucher, Nirmitha I. Herath, Fanny Dupuy, Pascale Varlet, Christine Haberler, Christine Walczak, Nadine El Tayara, Andreas Volk, Stéphanie Puget, François Doz, Olivier Delattre, Sabine Druillennec, Olivier Ayrault, Robert J. Wechsler-Reya, Alain Eychène, Franck Bourdeaut, Paul A. Northcott, Celio Pouponnot

Cancer Cell. Author manuscript; available in PMC 2019 Feb 9.

Published in final edited form as: Cancer Cell. 2018 Mar 12; 33(3): 435–449.e6. doi: 10.1016/j.ccell.2018.02.006

PMCID:: PMC6368680

Abstract Article PDF–1.5M

Select item 333841413.

Derivation of Human Differential Photoreceptor-like Cells from the Iris by Defined Combinations of CRX, RX and NEUROD

Yuko Seko, Noriyuki Azuma, Makoto Kaneda, Kei Nakatani, Yoshitaka Miyagawa, Yuuki Noshiro, Reiko Kurokawa, Hideyuki Okano, Akihiro Umezawa

PLoS One. 2012; 7(4): e35611. Published online 2012 Apr 25. doi: 10.1371/journal.pone.0035611

PMCID:: PMC3338414

Abstract Article PDF–1.4M

Select item 8597014.

Modulation of CRX Transactivation Activity by Phosducin Isoforms

Xuemei Zhu, Cheryl M. Craft

Mol Cell Biol. 2000 Jul; 20(14): 5216–5226. doi: 10.1128/mcb.20.14.5216-5226.2000

PMCID:: PMC85970

Abstract Article PDF–1.4M

Select item 501438515.

Differential dimerization of variants linked to enhanced S-Cone Sensitivity Syndrome (ESCS) located in the NR2E3 ligand-binding domain

Désirée von Alpen, H. Viet Tran, Nicolas Guex, Giulia Venturini, Francis L. Munier, Daniel F. Schorderet, Neena B. Haider, Pascal Escher

Hum Mutat. Author manuscript; available in PMC 2016 Sep 7.

Published in final edited form as: Hum Mutat. 2015 Jun; 36(6): 599–610. Published online 2015 Apr 27. doi: 10.1002/humu.22775

PMCID:: PMC5014385

Abstract Article PDF–1.4M

Select item 317860516.

No Interaction of Barrier-to-Autointegration Factor (BAF) with HIV-1 MA, Cone-Rod Homeobox (Crx) or MAN1-C in Absence of DNA

Ying Huang, Mengli Cai, G. Marius Clore, Robert Craigie

PLoS One. 2011; 6(9): e25123. Published online 2011 Sep 22. doi: 10.1371/journal.pone.0025123

PMCID:: PMC3178605

Abstract Article PDF–582K

Select item 277595417.

CRX Is a Diagnostic Marker of Retinal and Pineal Lineage Tumors

Sandro Santagata, Cecile L. Maire, Ahmed Idbaih, Lars Geffers, Mick Correll, Kristina Holton, John Quackenbush, Keith L. Ligon

PLoS One. 2009; 4(11): e7932. Published online 2009 Nov 20. doi: 10.1371/journal.pone.0007932

PMCID:: PMC2775954

Abstract Article PDF–989K

Select item 41639818.

Paired-Type Homeodomain Transcription Factors Are Imported into the Nucleus by Karyopherin 13

Jonathan E. Ploski, Monee K. Shamsher, Aurelian Radu

Mol Cell Biol. 2004 Jun; 24(11): 4824–4834. doi: 10.1128/MCB.24.11.4824-4834.2004

PMCID:: PMC416398

Abstract Article PDF–588K

Select item 361501619.

Sterile Alpha Motif Containing 7 (Samd7) Is a Novel Crx-Regulated Transcriptional Repressor in the Retina

Julia Hlawatsch, Marcus Karlstetter, Alexander Aslanidis, Anika Lückoff, Yana Walczak, Michael Plank, Julia Böck, Thomas Langmann

PLoS One. 2013; 8(4): e60633. Published online 2013 Apr 2. doi: 10.1371/journal.pone.0060633

PMCID:: PMC3615016

Abstract Article PDF–1.7M

Select item 274263920.

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India

Periasamy Sundaresan, P. Vijayalakshmi, Stewart Thompson, Audrey C. Ko, John H. Fingert, Edwin M. Stone

Mol Vis. 2009; 15: 1781–1787. Published online 2009 Sep 4.

PMCID:: PMC2742639

Abstract Article PDF–1.7M

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